{"id":5805,"date":"2024-01-24T13:15:40","date_gmt":"2024-01-24T12:15:40","guid":{"rendered":"https:\/\/alpha1-deutschland.org\/?p=5805"},"modified":"2024-01-24T13:18:05","modified_gmt":"2024-01-24T12:18:05","slug":"alpha-1-antitrypsin-mangel-neugeborenenscreening","status":"publish","type":"post","link":"https:\/\/alpha1-deutschland.org\/en\/alpha-1-antitrypsin-mangel-neugeborenenscreening","title":{"rendered":"Alpha-1 antitrypsin deficiency: Newborn screening"},"content":{"rendered":"
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Author<\/h4><\/span><\/span>\n<\/div>\n
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Marion Wilkens, Alpha1 Germany eV, as published in Alpha1 Journal 1\/2022<\/a>.<\/strong><\/p>\n<\/div>\n\n\n\n

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\u201e"Newborn screening is a program, usually nationally designed, for the routine examination of newborns. Its purpose is to test for certain congenital metabolic and hormonal disorders for which preventive treatment is possible, and where long-term damage can be avoided by starting treatment before the onset of symptoms." This is how Wikipedia defines it.<\/p>\n

Is it even possible to treat Alpha-1 Antitrypsin deficiency preventively? Of course, smoking cessation programs and the recommendation of an active lifestyle immediately come to mind, which would be of great importance as preventative care for our Alpha-1 children and adolescents.<\/p>\n

The challenge of ethical aspects<\/span><\/h2>\n

Many years ago, we approached the ethics committee and were rejected. Since then, the issue has been quietly and steadily simmering in our minds, and we've often wondered why all babies aren't simply tested for alpha-1 antitrypsin deficiency. A project by ACHSE (Alliance for Chronic Rare Diseases) on this topic came at just the right time for us, as we wanted to understand whether our involvement might be worthwhile after all.<\/p>\n

The first thing we had to learn was: if there's no treatment, there's no point in testing \u2014 but what exactly does that mean? We do have treatment, including sprays and substitution therapy, isn't that enough?<\/p>\n

In the Universal Declaration of Human Rights, the United Nations proclaimed that \u201echildren have a right to special care and support,\u201c and also \u201ea right not to know.\u201c This contradiction makes it difficult for us to enforce a right to newborn screening for Alpha-1.<\/p>\n

But let's take a step back to the original definition. Here, the ten screening principles of Wilson and Jungner apply. These can be assigned to four areas of the healthcare system and are decision criteria\u2014that is, critical questions used to evaluate the appropriateness of screening programs. First, one asks about the target disease for which screening is to be performed; the reliability of the diagnostic test is also important, as is the question of treatability, and ultimately, the overall outcome.<\/p>\n

The ten principles of the Wilson-Jungner screening<\/span><\/h2>\n

The ten principles that Wilson and Jungner defined in a 1968 WHO report as decision criteria regarding the appropriateness of a screening\/prevention program are:<\/p>\n<\/div>\n\n\n\n\n\t\t\t<\/div> \n\t\t<\/div>\n\t<\/div> \n<\/div><\/div>\n\t\t

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  1. The disease should represent a significant health problem.<\/li>\n
  2. There should be a recognized therapy for patients with a confirmed illness.<\/li>\n
  3. Facilities for diagnosis and treatment should be available.<\/li>\n
  4. There should be a recognizable phase of latency or early symptoms.<\/li>\n
  5. There should be a suitable testing or examination procedure.<\/li>\n
  6. The tests should be acceptable to the population.<\/li>\n
  7. The biological course of the disease, including the transition from the latency phase to the diagnosed disease, should be sufficiently understood.<\/li>\n
  8. There should be agreed-upon principles for which cases will be handled.<\/li>\n
  9. The costs (including diagnosis and treatment of diagnosed cases) should be in an economically balanced relationship to the overall potential costs of medical care.<\/li>\n
  10. Case detection should be a continuous process and not a "once-and-for-all" project.<\/li>\n<\/ol>\n

    Source: Wilson & Jungner (3. Wilson J, Junger G. Principles and practice of screening for disease. Geneva: World Health Organization; 1968.<\/a><\/p>\n<\/div>\n\n\n\n\n\t\t\t<\/div> \n\t\t<\/div>\n\t<\/div> \n<\/div><\/div>\n\t\t

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    Which diseases are currently tested for in newborn screening in Germany?<\/span><\/h2>\n

    Adrenogenital syndrome, maple syrup urine disease, biotinidase deficiency, carnitine metabolism defects, galactosemia, glutaric aciduria type I, hypothyroidism, isovaleric acidemia, LCHAD deficiency, VLCAD deficiency, MCAD deficiency, cystic fibrosis, phenylketonuria, tyrosinemia type I, severe combined immunodeficiency (SCID), sickle cell disease, and spinal muscular atrophy.1<\/p>\n

    Similar to AATM, these are many rare diseases that no one has ever heard of.<\/p>\n

    Is Wilson and Jungner's definition still relevant? Besides the medical aspects, what ethical considerations exist? It's crucial to remember that not every child with PiZZ necessarily develops the condition. Is potential stigmatization therefore the right approach?<\/p>\n

    For example, what about insurance? Do they even cover children with a genetic predisposition? Or is "not knowing" better? We still haven't found anyone willing to speak on this sensitive topic. Insurance companies don't seem to be subject to clear rules; it often sounds arbitrary, which suggests that no one wants to publicly comment.<\/p>\n

    We will continue to monitor the ACHSE project. While current treatments (sprays and replacement therapy) don't justify screening \u2013 they aren't preventative and can't halt the disease, but rather treat symptoms or slow lung deterioration \u2013 if research finds a way to unfold the misfolded protein and\/or cleanly remove it from the liver, wouldn't that be a compelling argument for newborn screening?<\/p>\n

    Criteria met: On the way to comprehensive prevention of alpha-1 antitrypsin deficiency<\/span><\/h2>\n

    We already fulfill many points of the ten screening principles today: We have good evidence of the disease, good centers for care, the costs of prevention (including smoking cessation) are significantly lower than treatment costs, and we have guidelines for optimal treatment (although we do not yet have our own guidelines in Germany).<\/p>\n

    Challenges and concerns: Uncertainty in managing alpha-1 antitrypsin deficiency<\/span><\/h2>\n

    Unfortunately, we still don't understand who gets sick and who doesn't. We also often forget in the discussion what this does to children and parents: fear is a poor companion. Do parents, knowing about a genetic defect, see every cough as an early sign of alpha-1 antitrypsin deficiency? Can children grow up "normally" knowing they have this deficiency? Not smoking is an important argument for early diagnosis, but isn't not smoking healthier for all children and adolescents anyway? Isn't an active life also the right way for all children to grow up healthy? These two arguments probably do justify not including newborn screening at this time.<\/p>\n

    For those who wish to delve deeper, we recommend the following reading:<\/span><\/h2>\n

    WHO: Preventive health check-ups and screening: a short guide<\/a>, Last accessed January 24, 2024.<\/p>\n

     <\/p>\n

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    Sources
    \n1.     Apotheken Umschau, last accessed 24.01.2024.<\/a><\/p>\n<\/div>\n\n\n\n\n\t\t\t<\/div> \n\t\t<\/div>\n\t<\/div> \n<\/div><\/div>","protected":false},"excerpt":{"rendered":"AutorIn Marion Wilkens, Alpha1 Deutschland e.V., so erschienen im Alpha1-Journal 1\/2022. \u201eUnter Neugeborenenscreening versteht man ein in der Regel national konzipiertes Programm zur Reihenuntersuchung an Neugeborenen. Hierbei soll auf bestimmte...","protected":false},"author":1,"featured_media":5806,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1,44],"tags":[],"class_list":["post-5805","post","type-post","status-publish","format-standard","has-post-thumbnail","category-allgemein","category-kinder"],"yoast_head":"\nAlpha-1-Antitrypsin-Mangel: Neugeborenenscreening<\/title>\n<meta name=\"description\" content=\"Erfahren Sie mehr \u00fcber die Herausforderungen und ethischen Aspekte des Neugeborenenscreenings beim Alpha-1-Antitrypsin-Mangel.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/alpha1-deutschland.org\/en\/alpha-1-antitrypsin-mangel-neugeborenenscreening\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" 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